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Article

Interpretation, stratification and evidence for sequence variants affecting mRNA splicing in complete human genome sequences.

Genomics, proteomics & bioinformatics - 1 Apr 2013

Shirley Ben C, Mucaki Eliseos J, Whitehead Tyson, Costea Paul I, Akan Pelin, Rogan Peter K

Abstract excerpt

Information theory-based methods have been shown to be sensitive and specific for predicting and quantifying the effects of non-coding mutations in Mendelian diseases. We present the Shannon pipeline software for genome-scale mutation analysis and provide evidence that the software predicts variants affecting mRNA splicing. Individual information contents (in bits) of reference and variant splice sites are...

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Identifiers

PMID: 23499923
DOI: 10.1016/j.gpb.2013.01.008
PMCID: PMC4357664

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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